A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa

Introduction

Epidermiolysis bullosa is a rare condition with clinical and genetic heterogeneity. This report describes the prenatal clinical manifestations in a case with a severe form of junctional epidermiolysis bullosa with pyloric stenosis. We discuss the diagnostic challenge but also the ultrasound signs emerging to be reminiscent of this condition.

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